1902?,Garrod?????????????????????????,??????????(inborn errors metabolism)????? - PowerPoint PPT Presentation

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Title:

1902?,Garrod?????????????????????????,??????????(inborn errors metabolism)?????

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Title: ---- Author: li Last modified by: wp Created Date: 4/27/2002 4:31:49 PM Document presentation format – PowerPoint PPT presentation

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Title: 1902?,Garrod?????????????????????????,??????????(inborn errors metabolism)?????


1
??? ?????
??? ????? ??? ??? ??? ???? ??? ????? ???
??????
2
  • 1902?,Garrod?????????????????????????,?????????
    ?(inborn errors metabolism)?????
  • 1941?,Beadle?Tatum????????????,????????????????
    ???????,????????????????,??????????????????????,??
    ????????????.
  • 1949?,Pauling?????????????,?????(molecular
    disease)???.

3
  • ??????????????,??????????????,??????????????????
    ,??????????????

?? 1)???????,????? 2)???????,????? 3)???????a-
?ß- ???mRNA ,????a?ß??? cDNA? 4)??????????????,??
?? ?????
4
  • ???Molecular disease
  • Gene??????????????,???????????????,?????
    ?

????? Hemoglobinopathy ???????????????????
?????
5
  • ? ????????

6
????????
  • ??Hb?????????
  • ???? ??? ???
  • (Heme) (globin)
  • ???? ??????? Hb??
  • 4?Hb?? ? ?????

7
Hb?????????????????????a?(a??)141????
8
Hb?????????????????????a ???ß?(ß?d???e)146????
9
Hb?????? ?????? Hb??????
10
????????
  • 1 ????????
  • ?a???Gene??16p13?
  • ?ß???Gene??11p15?
  • 2????????
  • ?????,????,??????
  • a???Gene 5???
  • 5-?-??-?a1-a2-a1-3
  • ß???Gene? 6???
  • 5-e-?G-?A-?ß1-d-ß-3

11
????????
? ????? ?2??1
?1?2 /?1?2
??????
????????
12
??Hb?????????? Hb????????????
  • ? ???????????HbGower?
  • ???????????Gower??
  • Portland
  • ? 12?????????,? ?????,
  • ?????,HbF???
  • ? ?????????, ? ?????,
  • ??????,HbA???

13
(No Transcript)
14
?????????? ????
  • ???????????????
  •   11chr ?? ??
    ??
  • 16chr 5---e--------G?----A?------
    d-------ß---3
  • 5
  • Hb Gower1 Hb
    Portland
  • ?? ? ?2e2 ?2 G?2

  • ?2 A?2
  • ?? a2 Hb Gower1I HbF
    HbA2 HbA
  • a2e2 a2
    G?2 a2d2 a2ß2
  • a2 A?2
  • ?? a1

3
15
? ?
?? ??
Gower?
Gower?
Portland
F
A2
A
16
H b ??
  • ??Hb Hb A ?2?2 9798
  • Hb A2 ?2?2 23
  • Hb F ?2?2 lt1
  • ??Hb Hb F ?2?2
  • ??Hb Hb Gower? ?2?2
  • (??12??)Hb Gower ? ?2?2
  • Hb Portland ?2?2

17
??a?ß??????????
  • 1?????
  • 3????,2????,????,?????
  • 1 31 32 99 100
    a gene
  • E1 INV E2 INV E3
  •  
  • 1 30 31 104 105

  • ß gene

18
2?????
  • E1 E2
    E3
  • 5
    ------3
  •   Transcription
  • Processing
  •  
  • 5-Cap----
    --polyAAAAA mRNA
  • Translation


19
??Hb?????????
  • ??????????????,??RBC ?????????????Gene????????(?
    ?Hb?)?????(?????),????????????(Hemoglobinopathies)
  • Hb????
  • ??Hb????????????
  • ??---HbS
  • ????????????????
  • ??????????-a?ß??

20
?)??????????----?? ????????????
  • ???????????????????????????????????????
  • 1949 ,Pauling-------???????
  • ?? Ingram--------????????

21
(?)???????(90) 1????? ????????????????3???
????????????? HbS(???????)
?6 GAA ? GUA
22
????????---??---??Hb??-- ? ????--- C?????--
?????---RBC ??---??
  • ????
  • ?????
  • ????????????????
  • ?????
  • ???????????
  • ?????????
  • ??? ?????????
  • ? ????S??

23
??RBC ??RBC
24
(No Transcript)
25
Sickle cell anemia Diagnosis hemoglobin
electrophoresis
Hb A
Hb s
Hb C/A2
26
(No Transcript)
27
  • 2?????
  • ?????????
  • ?Hb Mckees-Rock
  • ?145AAG UAU CAC UAA
  • ?----?----?----??
  • AAG UAA CAC UAA
  • ?---??

28
3??????? ????????????,?????
  • ? Hb Constant Spring
  • ?142CGU UAA? CGU CAA GCU-- UAA

29
  • (?) ????
  • ????????????
  • ? Hb Wayne
  • ?137-ACC UCC AAA UAC CGU UAA
  • ?---?----?----?-----?--- ?--

ACC UCA AAU ACC GUU AAG
?---?---??---?----?----?---
30
(?)?????????????????Hb Gum Hiu
  • ?89AGUGAGCUGCACUGUGACAAGCUGCAC GUG
  • -----????????????---

----?????----
31
(?)????????????????
32
?)????????????----????
  • ??????????????????????????,????????????,??????????
    ???
  • ???????/????????????????,??a???a??????,???????,
  • ????????

33
a?????/??a?????, ??a??? a?????/???ß???????ß???
?????
ß?????/??ß????? ??ß???ß?????/???a
???????a??? ??HbA? ??????????
34
(?)?a?????
  • 1 a????????
  • ????????aGene ???????????,??????????
  • ?????????aGene16p13
  • a2 a1
  • a2 a1
  • ????a???a??,a??????
  • ????a???a0??,a??????

35
? ?????(? ??)
  • ??? ?2 ?1/?2 ?1

? ?????
??? ???
(???)
?/ ? ?/? ?
36
a???????
  • ??Gene??????,????????,??????
  • Gene?? Gene? ? ? ? ?
    ????
  • - -/- - a0?? ?a?,?4
    HbBarts????
  • ???
    (??????????)
  • 3 - -/- a a0a a??,ß4
    HbH ?????
  • ???
  • - -/aa a0aA a??,??
    ??,?????
  • ??? ??
  • -a/- a a???
  • 1 - a/aa aaA ????a?
    ??? ???
  • ???
  •  

37
(No Transcript)
38
(No Transcript)
39
2?a???????
  • ?aGene??
  • Gene???(??14Gene),?????
  • ???? ????????????????????
  •  

40
(?)?ß?????
  • ß???Gene ??????????ß????????? ???????
  • ß0 ??ß???????
  • ß?????
  • ß??ß?????

41
1????? ??????? 
??RBC?????
d?ß???????
??/??
??HbF ??,???
42
(No Transcript)
43
(No Transcript)
44
2?ß????????
  • Gene ? ?? ?????? ,??,?????????
  • ??????100??????,??????,?????????????????

45
1/ ????? ????mRNA ?????,??????mRNA,??????ß?? ? ?
??????? 17(A?C),43 ( G?T),ß0?? ?
????41/42(-TCTT),71/72 (A),ß0?? ?
??????ATG?AGG,ß0??
46
2/ ????????mRNA???????,?????mRNA,? ? ???I
GT?AT????????? ? ?????? ????????I?
Exon?????? ?GGT?AGT ???????
47
3/ ?????? ??mRNA??????ß????????TATA Box?
?-28?A?G 4/ RNA ???? ß???Gene3?????????
AATAAA?AACAAA,????????poly A? 5/????????
??????,??????????mRNA????????
48
???? ?  ?????????????????????(?????)Gene??
???a????????????ß????????
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